Results 101 to 110 of about 31,972 (221)

Reconstitution of CFTR ubiquitination identifies lysine-420 as a regulator of cell surface residence and current

Biochemistry and Biophysics Reports
Background: The most common loss-of-function mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) is F508del. The misfolded F508del-CFTR protein is targeted for endoplasmic reticulum associated degradation (ERAD ...
Jennifer L. Goeckeler-Fried, Xuemei Zeng, Jeong S. Hong, Disha Joshi, Zhengrong Yang, Fan Jiang, John C. Kappes, Eric J. Sorscher, Jeffrey L. Brodsky   +8 more
doaj   +1 more source

Consistency and clarity of pharmacogenomic guidance in UK medicine patient information leaflets: A cross‐sectional analysis

British Journal of Clinical Pharmacology, Volume 92, Issue 6, Page 1934-1939, June 2026.
Pharmacogenomic (PGx) information has the potential to support the safe and effective use of medicines, yet there is uncertainty about how this information can be best communicated to patients. Summaries of product characteristics (SmPCs) and patient information leaflets (PILs) for all UK‐approved medicines with strong evidence supporting a PGx ...
Parth Narlawar, Chloe Ratcliffe, Videha Sharma, William G. Newman, Munir Pirmohamed, John McDermott   +5 more
wiley   +1 more source

Search for proteins with similarity to the CFTR R domain using an optimized RDBMS solution, mBioSQL

Open Life Sciences, 2006
Hegedűs Tamás, Riordan John
doaj   +1 more source

Enhancing Interpretability and Explainability of Protein Function Prediction ML Model Using Explainable AI

Engineering Reports, Volume 8, Issue 6, June 2026.
This systematic review traces the evolution of protein function prediction from experimental methods through homology‐based tools, ML and DL to XAI. While deep learning models achieve state‐of‐the‐art predictive accuracy, their black‐box nature limits biological insight and clinical trust.
Aastha Katiyar, Rashmi Yadav
wiley   +1 more source

Viral Detection and Clinical Disease Features in Pediatric Chronic Rhinosinusitis

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 3, June 2026.
ABSTRACT Objectives Chronic rhinosinusitis (CRS) results from complex host‐environment interactions with microbiome dysbiosis and viral infections postulated to drive inflammation and anatomic remodeling. This study investigates the impact of viral presence on pediatric sinonasal disease and clinical outcomes.
Mary C. Wilding, Amber D. Shaffer, Glenn J. Rapsinski, Monika Johnson, Yasmin Hilliam, John V. Williams, Jennifer M. Bomberger, Amanda L. Stapleton   +7 more
wiley   +1 more source

A Powerful and Universal Preimplantation Genetic Diagnosis Protocol for Cystic Fibrosis

European Medical Journal Reproductive Health, 2018
Background: Cystic fibrosis (CF) is one of the most common indications of preimplantation genetic diagnosis (PGD) for monogenic disorders worldwide. Aims: The aim of this article was to report a universal and powerful assay easily applicable to all ...
Victoria Viart, Aliya Ishmukhametova, Stéphanie Plaza, Garance Verrière, Florielle Saguet, Mireille Claustres, Anne Girardet   +6 more
doaj  

Implications for cystic fibrosis therapy: Potentiator icenticaftor is superior to ivacaftor in improving function and maintaining stability of F508del CFTR

Science Progress
Objective The objective of this study was to compare CFTR potentiators icenticaftor versus ivacaftor (IVA) to elucidate efficacy in augmenting CFTR function while preserving CFTR protein levels. Methods Single-channel measurements of CFTR in the presence
Deborah M Cholon, Luba A Aleksandrov, Nancy L Quinney, Susan E Boyles, Timothy J Jensen, Andrei A Aleksandrov, Martina Gentzsch   +6 more
doaj   +1 more source

Lung Microbiome Diversity, Infection Dynamics, and Microbe‐Mediated Cross‐Protection

MicrobiologyOpen, Volume 15, Issue 3, June 2026.
The protective role of the lung microbiome in maintaining respiratory health by promoting immune homeostasis, pathogen exclusion, and barrier integrity. Diverse microbial communities regulate immune maturation, enhance epithelial defenses, and contribute to antiviral responses, collectively preventing pathogen colonization and sustaining a balanced ...
Sana Arooj, Akmal Zubair, Syeda Zaira Batool, Granaz Niaz, Muhammad Ali, Yasir Waheed, Eman Ramadan Elsharkawy, Naila Afghan   +7 more
wiley   +1 more source

The novel CFTR haplotype E583G/F508del in CFTR-related disorder

Molecular Biology Reports
Abstract Background CFTR-related disorder (CFTR-RD) is a clinical entity associated to complex diagnostic paths and newly upgraded standard of care. In CFTR-RD, CFTR genotyping represents a diagnostic surrogate marker. In case of novel haplotype, the diagnosis could represents an area of concern.
De Paolis, Elisa, Tilocca, Bruno, Inchingolo, Riccardo, Lombardi, Carla, Perrucci, Alessia, Maneri, Giulia, Roncada, Paola, Varone, Francesco, Luca, Richeldi, Urbani, Andrea, Minucci, Angelo, Santonocito, Concetta   +11 more
openaire   +3 more sources

Pathways of Protein Secretion in Prokaryotes and Eukaryotes: Molecular Mechanisms, Biological Functions, and Therapeutic Opportunities

MedComm, Volume 7, Issue 6, June 2026.
This graphical abstract delineates noncanonical protein secretion systems across eukaryotes and prokaryotes. Eukaryotic UcPS covers four ER–Golgi bypass pathways, enabling rapid leaderless protein export via direct transmembrane translocation or vesicle‐mediated release.
Qiyuan Yang, Jingfei Shi, Linlin Xu, Guangrui Zhao, Yue Chen, Lin Cheng, Xiaokang Li, Zhigang Sun, Shuhong Huang   +8 more
wiley   +1 more source